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Genetic Epilepsy

Gene: HPRT1

Amber List (moderate evidence)

HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 13 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

total of 46 LNS patients plus literature review on HPRT1 variants.
Clinical spectrum depends on enzyme deficiency; with complete loss associated with classical LNS while residual enzymatic activities are associated with overproduction of uric acid but no apparent neurological or behavioural deficits.
Created: 16 Jun 2020, 12:36 a.m. | Last Modified: 16 Jun 2020, 12:36 a.m.
Panel Version: 0.3081

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
HPRT-related gout (MIM# 300323), Lesch-Nyhan syndrome (MIM# 300322)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Seizures seem to be a rare feature of this metabolic disorder.
Created: 23 Jan 2020, 11:38 p.m. | Last Modified: 23 Jan 2020, 11:38 p.m.
Panel Version: 0.314

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lesch-Nyhan syndrome

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Lesch-Nyhan syndrome
OMIM
308000
Clinvar variants
Variants in HPRT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hprt1 has been classified as Amber List (Moderate Evidence).

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome

23 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPRT1 were set to

23 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hprt1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPRT1 was added gene: HPRT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPRT1 was set to Unknown